UniProtKB/Swiss-Prot
:71
Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive: A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Disease Ontology
:12
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has material basis in homozygous mutation in the DLX5 gene on chromosome 7q21.

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

Symptoms via clinical synopsis from OMIM:

Skeletal- Hands:ectrodactylysplit handtapered fingers (in some patients)dorsalization of palms (in some patients)restriction of flexion at all metacarpophalangeal and interphalangeal joints (in some patients)